Choosing Wisely:

Don’t order MTHFR genetic testing for the risk assessment of hereditary thrombophilia.

Rationale and Comments: The common MTHFR gene variants, 677C>T and 1298A>G, are prevalent in the general population. Recent meta-analyses have disproven an association between the presence of these variants and venous thromboembolism.
Sponsoring Organizations:
  • American College of Medical Genetics and Genomics
  • Sources:
  • American College of Medical Genetics and Genomics guideline
  • Disciplines:
  • Genetic
  • Hematologic
  • References: • Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6.

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